Over the last years, Genome-wide Association studies (GWAS) have identified thousands of variants robustly associated with different complex traits. Large scale genotyping and meta-analyses of more than 200,000 breast cancer cases and controls, mainly through the Breast Cancer Association Consortium, led to the identification of 200 loci that are associated with breast cancer susceptibility.

The majority of these variants are common in the population (minor allele frequency greater than 5%) and contribute to a small fraction of the disease risk. These variants have shown to combine in a multiplicative way and can be summarized as a polygenic risk score (PRS) that can be used to categorize women into different risk categories and thus has the potential to be used in breast cancer prevention.

In this talk, she will give a brief introduction for GWAS and then focus on discoveries in breast cancer. She will discuss PRS and post GWAS approaches such as fine mapping.